Detection of filaggrin mutations in patients with atopic dermatitis

Aim To study the genetics of filaggrin(FLG) mutations in patients with atopic dermatitis patients of Chinese Han population.Methods DNA was extracted and 5 mutation sites(3321delA,441delA,1249insG,E1795X and S3296X) of filaggrin in a cohort of 50 atopic dermatitis patients and 100 control individuals were investigated using the Sequenom MassARRAY system.Results The filaggrin mutation sites of 3321delA was observed in 14 atopic dermatitis patients and 4 healthy controls.The mutation at 441delA was observed in 6 atopic dermatitis patients and no mutation at site 441delA was observed in healthy controls.The mutations at sites of 1249insG,E1795X and S3296X were not observed in both groups.Conclusions These findings show that the FLG mutation could be related with AD susceptibility in Chinese Han population.